January

Eliminating rare diseases

Newcastle University is co-ordinating an international effort to connect research data in order to develop new diagnostic tools and treatments for people with rare diseases.

Rare diseases – while individually uncommon – affect one person in every 17. 80% of rare diseases have a genetic component, and they include genetic kidney diseases like nephrotic syndrome and conditions like Huntington’s disease, ataxia and muscular dystrophy.

Today, the EU has announced nearly £32 million (38 million Euro) funding for research towards new treatments and for the development of a central global rare disease hub involving 70 institutions that will allow scientists to share data from their genomics research projects. This will lead to faster diagnosis, better treatments and improve the quality of life for patients.

The revolution in DNA sequencing, which means an entire human genome can now be sequenced within days and for less than 10,000 Euro, has brought the hope of personalized treatments for many of these diseases a step closer.

Professor Hanns Lochmüller of Newcastle University, who is leading the new rare disease hub, said: “Being able to sequence a person’s entire genetic code is an important advance, particularly for people living with the many rare genetic disorders, but it has also shown us that sequencing is only the first part of the story. It doesn’t replace clinical expertise – in fact, being able to combine genetic data with clinical data is more important than ever.”

Dr Ségolène Aymé, Emeritus Director of Research at INSERM, the French Institute of Health and Medical Research, added: “Sequencing produces a vast amount of information, but in most cases it will find hundreds of genetic changes in each person. We now need to collate the data internationally to discover which change – or combination of changes – actually causes the disease.”

Further funding received by the Institute of Genetic Medicine at Newcastle University, which is one of the UK’s leading rare disease centres, will enable doctors and scientists to use the cutting-edge genetic techniques. This will help in the diagnosis of more patients at the Newcastle centre, in enrolling patients into clinical trials, and develop and harmonise international care guidelines setting out best practice care.

Professor Lochmüller added: “Already we have drugs being tested in clinical trials which can, in effect, patch up the faults in the genes for some rare diseases such as Duchenne muscular dystrophy. Drugs like this are at the vanguard of a new generation of therapies that change a person’s genes rather than just treating their symptoms, and they have the potential to make a real difference to the quality of life of people with the condition. By sharing data and clinical expertise in this structured way across an international network, we hope to discover similar life-changing drugs for other rare diseases.”

The International Rare Diseases Research Consortium (IRDiRC), under which these new grants have been awarded, aims to accelerate research into rare diseases. Professor Paul Lasko of McGill University in Montréal, Canada, Chair-Elect of the IRDiRC Executive Committee, explained: “IRDiRC’s goal is to reach 200 new rare disease therapies, and diagnoses for all rare diseases, by the year 2020. To this end, it is today launching three major projects which will combine international genetic data with clinical information and data on biomaterials to help interpret the vast amounts of data the genome yields. This will aid scientists in the search for genetic causes of diseases and help identify new ways to create targeted therapies”.

A rare disease is defined by the European Union as one that affects fewer than five people in every 10,000 of the general population. There are between 6,000 and 8,000 known rare diseases, and approximately 30 million people across Europe are affected by a rare disease.

The four IRDiRC projects being launched in Barcelona today have received nearly 40 million EUR of funding for cutting-edge research and collaboration over the next six years. Funding focuses on four international collaborations:

The International Rare Diseases Research Consortium (IRDiRC) aims to foster international collaboration in rare disease research, a highly challenging area of medical research that has the potential to benefit tremendously from the recent advances in genomics, proteomics and other omics technologies. IRDiRC has set itself the bold aims of delivering 200 new rare disease therapies and diagnosis for all rare diseases by the year 2020. Spearheaded by the European Union, the United States National Institutes of Health and the Canadian Institutes of Health Research, the IRDiRC now numbers 29 member funding institutions across the world. This global collaboration between major research funders will ensure greater harmonization of rare disease research activities and lay the foundations for future networking that is essential to accelerate progress in the field.